Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76302591G>T , CM000669.2:g.76302591G>T | GRCh38 |
| NC_000007.13:g.75931908G>T , CM000669.1:g.75931908G>T | GRCh37 |
| NC_000007.12:g.75769844G>T | NCBI36 |
| NG_008995.1:g.5034G>T , LRG_248:g.5034G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001540.3:c.-122G>T , LRG_248t1:c.-122G>T | NP_001531.1:n.-122G>T |
| NM_001540.4:c.-122G>T | NP_001531.1:n.-122G>T |
| ENST00000248553.6:c.-122G>T | ENSP00000248553.6:n.-122G>T |